Somatic Mutations in the Angiopoietin-Receptor TIE2 Can Cause Both Solitary and Multiple Sporadic Venous Malformations

por Limaye, Nisha, Wouters, Vinciane, Uebelhoer, Melanie, Tuominen, Marjut, Wirkkala, Riikka, Mulliken, John B., Eklund, Lauri, Boon, Laurence M., Vikkula, Miikka
Publicado 2008

KRAS-driven model of Gorham-Stout disease effectively treated with trametinib

por Homayun-Sepehr, Nassim, McCarter, Anna L., Helaers, Raphaël, Galant, Christine, Boon, Laurence M., Brouillard, Pascal, Vikkula, Miikka, Dellinger, Michael T.
Publicado 2021

Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis

por Smeland, Marie F., Brouillard, Pascal, Prescott, Trine, Boon, Laurence M, Hvingel, Bodil, Nordbakken, Cecilie V, Nystad, Mona, Holla, Øystein L., Vikkula, Miikka
Publicado 2023

Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study

por Hammer, Jennifer, Seront, Emmanuel, Duez, Steven, Dupont, Sophie, Van Damme, An, Schmitz, Sandra, Hoyoux, Claire, Chopinet, Caroline, Clapuyt, Philippe, Hammer, Frank, Vikkula, Miikka, Boon, Laurence M.
Publicado 2018

Efficacy of Sirolimus in Patients Requiring Tracheostomy for Life-Threatening Lymphatic Malformation of the Head and Neck: A Report From the European Reference Network

por Holm, Annegret, te Loo, Maroeska, Schultze Kool, Leo, Salminen, Päivi, Celis, Veronica, Baselga, Eulalia, Duignan, Sophie, Dvorakova, Veronika, Irvine, Alan D., Boon, Laurence M., Vikkula, Miikka, Ghaffarpour, Nader, Niemeyer, Charlotte M., Rössler, Jochen, Kapp, Friedrich G.
Publicado 2021

Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations

por Brouillard, Pascal, Schlögel, Matthieu J., Homayun Sepehr, Nassim, Helaers, Raphaël, Queisser, Angela, Fastré, Elodie, Boutry, Simon, Schmitz, Sandra, Clapuyt, Philippe, Hammer, Frank, Dompmartin, Anne, Weitz-Tuoretmaa, Annamaria, Laranne, Jussi, Pasquesoone, Louise, Vilain, Catheline, Boon, Laurence M., Vikkula, Miikka
Publicado 2021

The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Venous Malformations

por Dompmartin, Anne, Baselga, Eulalia, Boon, Laurence M., Diociaiuti, Andrea, Dvorakova, Veronika, El Hachem, May, Gasparella, Paolo, Haxhija, Emir, Ghaffarpour, Nader, Kyrklund, Kristiina, Irvine, Alan D., Kapp, Friedrich G., Rößler, Jochen, Salminen, Päivi, van den Bosch, Caroline, van der Vleuten, Carine, Schultze Kool, Leo, Vikkula, Miikka
Publicado 2023

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

por Schlögel, Matthieu J, Mendola, Antonella, Fastré, Elodie, Vasudevan, Pradeep, Devriendt, Koen, de Ravel, Thomy JL, Van Esch, Hilde, Casteels, Ingele, Arroyo Carrera, Ignacio, Cristofoli, Francesca, Fieggen, Karen, Jones, Katheryn, Lipson, Mark, Balikova, Irina, Singer, Ami, Soller, Maria, Mercedes Villanueva, María, Revencu, Nicole, Boon, Laurence M, Brouillard, Pascal, Vikkula, Miikka
Publicado 2015

Somatic mosaic IDH1 or IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome

por Pansuriya, Twinkal C., van Eijk, Ronald, Adamo, Pio d', van Ruler, Maayke A.J.H., Kuijjer, Marieke L., Oosting, Jan, Cleton-Jansen, Anne-Marie, van Oosterwijk, Jolieke G., Verbeke, Sofie L.J., Meijer, Daniëlle, van Wezel, Tom, Nord, Karolin H., Sangiorgi, Luca, Toker, Berkin, Liegl-Atzwanger, Bernadette, San-Julian, Mikel, Sciot, Raf, Limaye, Nisha, Kindblom, Lars-Gunnar, Daugaard, Soeren, Godfraind, Catherine, Boon, Laurence M., Vikkula, Miikka, Kurek, Kyle C., Szuhai, Karoly, French, Pim J., Bovée, Judith V.M.G.
Publicado 2011